ClinVar Miner

List of variants studied for ABCA4-related retinopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly) rs1660360744
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382

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